Variant report

Variant	rs59568349
Chromosome Location	chr12:105258336-105258337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105252367..105254848-chr12:105257753..105259443,2	K562	blood:
2	chr12:105257620..105260292-chr12:105262517..105265546,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17036430	1.00[AMR][1000 genomes]
rs56172532	1.00[AMR][1000 genomes]
rs56302664	1.00[AMR][1000 genomes]
rs56745471	1.00[AMR][1000 genomes]
rs56747454	1.00[AMR][1000 genomes]
rs56784841	1.00[AMR][1000 genomes]
rs57845641	1.00[AMR][1000 genomes]
rs58535833	0.89[AFR][1000 genomes]
rs59027081	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59751889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61274096	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7300539	1.00[AMR][1000 genomes]
rs7305882	1.00[AMR][1000 genomes]
rs7980760	1.00[AMR][1000 genomes]
rs9669688	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105220800-105260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:105222000-105258400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:105222000-105258600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:105222200-105258800	Weak transcription	Pancreas	Pancrea
5	chr12:105229000-105259200	Weak transcription	Placenta	Placenta
6	chr12:105233200-105258600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:105236200-105258600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:105237400-105259000	Weak transcription	A549	lung
9	chr12:105238400-105260400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:105238400-105280000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:105240600-105258800	Weak transcription	Aorta	Aorta
12	chr12:105243800-105265800	Weak transcription	Fetal Stomach	stomach
13	chr12:105248000-105269000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:105248800-105259600	Strong transcription	Liver	Liver
15	chr12:105252200-105259000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:105257000-105258400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:105257000-105258400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:105257000-105259200	Enhancers	Osteobl	bone
19	chr12:105257000-105259400	Enhancers	Ovary	ovary
20	chr12:105257000-105260000	Enhancers	NHDF-Ad	bronchial
21	chr12:105257000-105260600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:105257000-105260800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:105257000-105260800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr12:105257000-105261400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:105257200-105258600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:105257400-105258600	Weak transcription	HMEC	breast
27	chr12:105257400-105258800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:105257600-105260000	Weak transcription	HSMMtube	muscle
29	chr12:105257600-105260400	Enhancers	Hela-S3	cervix
30	chr12:105257800-105259200	Enhancers	Left Ventricle	heart
31	chr12:105257800-105259400	Enhancers	Right Atrium	heart
32	chr12:105257800-105259800	Weak transcription	NH-A	brain
33	chr12:105258000-105259400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:105258200-105258600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:105258200-105260000	Enhancers	Primary monocytes fromperipheralblood	blood

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